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Genetic analysis of patients with the Saethre-Chotzen phenotype.
Chun K, Teebi AS, Jung JH, Kennedy S, Laframboise R, Meschino WS, Nakabayashi K, Scherer SW, Ray PN, Teshima I. Chun K, et al. Among authors: scherer sw. Am J Med Genet. 2002 Jun 15;110(2):136-43. doi: 10.1002/ajmg.10400. Am J Med Genet. 2002. PMID: 12116251
1q21.1 Microduplication expression in adults.
Dolcetti A, Silversides CK, Marshall CR, Lionel AC, Stavropoulos DJ, Scherer SW, Bassett AS. Dolcetti A, et al. Among authors: scherer sw. Genet Med. 2013 Apr;15(4):282-9. doi: 10.1038/gim.2012.129. Epub 2012 Sep 27. Genet Med. 2013. PMID: 23018752 Free PMC article. Review.
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW. Lionel AC, et al. Among authors: scherer sw. Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393157 Clinical Trial.
Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Costain G, Lionel AC, Merico D, Forsythe P, Russell K, Lowther C, Yuen T, Husted J, Stavropoulos DJ, Speevak M, Chow EW, Marshall CR, Scherer SW, Bassett AS. Costain G, et al. Among authors: scherer sw. Hum Mol Genet. 2013 Nov 15;22(22):4485-501. doi: 10.1093/hmg/ddt297. Epub 2013 Jun 27. Hum Mol Genet. 2013. PMID: 23813976 Free PMC article.
Adult expression of a 3q13.31 microdeletion.
Lowther C, Costain G, Melvin R, Stavropoulos DJ, Lionel AC, Marshall CR, Scherer SW, Bassett AS. Lowther C, et al. Among authors: scherer sw. Mol Cytogenet. 2014 Mar 20;7(1):23. doi: 10.1186/1755-8166-7-23. Mol Cytogenet. 2014. PMID: 24650298 Free PMC article.
665 results